Phenotype Image Detail

Image

Caption

Pharyngeal arch artery (PAA) patterning defects in Chd7^Whi/Chd7⁺ (Whi/+), Chd7^Gt(XK403)Byg/Chd7⁺ (Chd7^+/xk) and Chd7^Gt(XK403)Byg/Chd7⁺ Tbx1^tm1Bld/Tbx1⁺ (Chd7^+/xk;Tbx1^+/-) embryos. Black arrows denote absent fourth PAA; red arrowheads denote absence of arches; dashed lines denote thymic lobes (t). pa1, pharyngeal arch 1; III, third PAA; IV, fourth PAA; VI, sixth PAA; rc, right common carotid; lc, left common carotid; rs, right subclavian; ls, left subclavian; ao, aortic arch; h, heart; pt, pulmonary trunk; da, ductus arteriosus. (A-H) Ink-injected PAAs at E10.5. (A and B) Right and left lateral views of ink-filled wild-type (WT) PAAs after intracardiac ink injection. (C and D) Chd7^Whi/Chd7⁺ (Whi/+) embryos with absence of the fourth PAA (black arrows). (E-H) Chd7^+/xk embryos with absent fourth PAA. (I-P) Great vessels in WT (I), Chd7^+/xk (J-M), and Chd7^+/xk;Tbx1^+/- (N-P) embryos at E14.5. (J) Type B interruption of the aortic arch (IAA-B) with a right-sided pulmonary trunk. (K) Cervical aortic arch and hypoplastic, ectopic thymic lobes. (L) Absent right subclavian artery (ARS) with hypoplastic right thymic lobe and left lobe removed to examine the aortic arch. (M) ARS. (N) Right brachiocephalic and cervical right subclavian overlying the right thymic lobe, as well as hypoplastic, irregular, and ectopic thymic lobes. (O) IAA-B and ARS. (P) IAA-B, right brachiocephalic artery overlying right thymic lobe, and cervical right subclavian, as well as hypoplastic, irregular, and ectopic thymic lobes. (Q) WT thymic lobes. (R) Chd7^+/xk embryo with irregularly shaped thymic lobes. (S and T) Foxn1 in situ hybridization marking the E10.5 thymic primordium. (S) WT Foxn1 expression in the third pharyngeal pouch. (T) Chd7^+/xk embryo. White arrow indicates absent Foxn1 expression. Scale bars: 100 um (A-H, S, and T); 1 mm (I-R).

Copyright

This image is from Randall V, J Clin Invest 2009 Nov;119(11):3301-10 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:154590

Associated Alleles

Symbol	Name
Chd7^Gt(XK403)Byg	chromodomain helicase DNA binding protein 7; gene trap XK403, BayGenomics
Chd7^Whi	chromodomain helicase DNA binding protein 7; whirligig
Tbx1^tm1Bld	T-box 1; targeted mutation 1, Antonio Baldini

Associated Genotypes

Allelic Composition	Genetic Background
Chd7^Gt(XK403)Byg/Chd7^+	involves: 129P2/OlaHsd * C57BL/6
Chd7^Gt(XK403)Byg/Chd7^+ Tbx1^tm1Bld/Tbx1^+	either: (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6) or (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * CD-1)
Chd7^Whi/Chd7^+	B6.C3Fe-Chd7^Whi